Article history: Received 3 January 2012 Accepted 3 January 2012 Available online 10 January 2012 risky investigations in infants with neonatal cholestasis, provision of appropriate dietary management and genetic counseling, and long term health surveillance [5]. In many centers in Asia and elsewhere, NICCD is a condition to be excluded early in infants with prolonged cholestasis and this had l...

We report two Malaysian siblings with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The younger sibling, a six-month-old Chinese girl, presented with prolonged neonatal jaundice, and was investigated for biliary atresia. Urine metabolic screen showed the presence of urinary-reducing sugars, and she was treated with a lactose-free formula. NICCD was suspected based on th...

Citrullinemia is the earliest identifiable biochemical abnormality in 13 neonates with intrahepatic cholestasis due to a citrin deficiency (NICCD) and it has 14 been included in newborn screening panels using tandem mass spectrometry. 15 However, only one neonate was positive among 600,000 infants born in Sapporo 16 city and Hokkaido, Japan between 2006 and 2017. We investigated 12 neonates wit...